Incidental Mutation 'IGL02730:Mapk1ip1l'
ID 305408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapk1ip1l
Ensembl Gene ENSMUSG00000021840
Gene Name mitogen-activated protein kinase 1 interacting protein 1-like
Synonyms C130032J12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # IGL02730
Quality Score
Status
Chromosome 14
Chromosomal Location 47535731-47560663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47548377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 175 (T175I)
Ref Sequence ENSEMBL: ENSMUSP00000127475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164235] [ENSMUST00000166743] [ENSMUST00000227554]
AlphaFold Q8BH93
Predicted Effect possibly damaging
Transcript: ENSMUST00000164235
AA Change: T175I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132875
Gene: ENSMUSG00000021840
AA Change: T175I

DomainStartEndE-ValueType
low complexity region 30 61 N/A INTRINSIC
low complexity region 69 120 N/A INTRINSIC
low complexity region 166 214 N/A INTRINSIC
low complexity region 225 238 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000166743
AA Change: T175I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127475
Gene: ENSMUSG00000021840
AA Change: T175I

DomainStartEndE-ValueType
low complexity region 30 61 N/A INTRINSIC
low complexity region 69 120 N/A INTRINSIC
low complexity region 166 214 N/A INTRINSIC
low complexity region 225 238 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000227554
Predicted Effect probably benign
Transcript: ENSMUST00000228058
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,304,210 (GRCm39) probably benign Het
Ankib1 A T 5: 3,752,995 (GRCm39) V651E probably damaging Het
BC051665 G A 13: 60,932,826 (GRCm39) probably benign Het
Ces1d C T 8: 93,912,644 (GRCm39) G265S probably benign Het
Dsg1c A C 18: 20,407,887 (GRCm39) D411A probably damaging Het
Exosc5 T C 7: 25,362,622 (GRCm39) I70T possibly damaging Het
Fgf20 T A 8: 40,732,828 (GRCm39) L203F probably damaging Het
Gpsm1 T A 2: 26,215,390 (GRCm39) V316E probably benign Het
Gtpbp1 T A 15: 79,603,372 (GRCm39) D620E probably benign Het
Hs6st1 A G 1: 36,142,709 (GRCm39) T215A probably damaging Het
Irgm2 T A 11: 58,110,816 (GRCm39) M169K probably benign Het
Kcns3 A G 12: 11,142,076 (GRCm39) S208P probably benign Het
Klra6 T C 6: 129,999,660 (GRCm39) T103A probably benign Het
Lrba T A 3: 86,235,506 (GRCm39) M870K probably damaging Het
Meig1 A G 2: 3,412,947 (GRCm39) Y25H probably damaging Het
Msh2 T C 17: 88,014,643 (GRCm39) F474L probably damaging Het
Nlrp4b T C 7: 10,448,685 (GRCm39) F296S probably damaging Het
Or10d1b C T 9: 39,613,534 (GRCm39) C177Y probably damaging Het
Or12d17 T A 17: 37,777,750 (GRCm39) Y218N probably damaging Het
Or14c40 T C 7: 86,313,275 (GRCm39) L135P probably damaging Het
Or2m12 T A 16: 19,105,432 (GRCm39) L20F probably benign Het
Or5al6 C T 2: 85,976,443 (GRCm39) V212M probably benign Het
Or5w15 T A 2: 87,567,985 (GRCm39) I228F probably damaging Het
Or6z3 T C 7: 6,464,123 (GRCm39) I205T possibly damaging Het
Or8s8 A G 15: 98,354,317 (GRCm39) N42S probably damaging Het
Pds5b A G 5: 150,704,217 (GRCm39) probably benign Het
Plekhg1 A G 10: 3,823,242 (GRCm39) D70G possibly damaging Het
Rubcnl C T 14: 75,287,588 (GRCm39) T624M probably damaging Het
Runx1t1 C T 4: 13,860,019 (GRCm39) H317Y probably benign Het
Sec22a T C 16: 35,134,470 (GRCm39) D282G probably damaging Het
Serpina3a T C 12: 104,085,922 (GRCm39) F126L probably damaging Het
Serpinc1 A G 1: 160,827,598 (GRCm39) D399G probably damaging Het
Sorcs2 A G 5: 36,219,896 (GRCm39) Y383H probably benign Het
Speer3 T A 5: 13,843,285 (GRCm39) M64K probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stx1b C A 7: 127,414,549 (GRCm39) R25L probably benign Het
Syt5 A G 7: 4,545,356 (GRCm39) V181A probably damaging Het
Tspoap1 G T 11: 87,672,535 (GRCm39) V1788F probably damaging Het
Vinac1 T C 2: 128,880,646 (GRCm39) T427A possibly damaging Het
Vmn1r233 A G 17: 21,214,057 (GRCm39) S298P possibly damaging Het
Xntrpc T C 7: 101,731,319 (GRCm39) S353P probably damaging Het
Other mutations in Mapk1ip1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02643:Mapk1ip1l APN 14 47,548,339 (GRCm39) missense possibly damaging 0.71
R7329:Mapk1ip1l UTSW 14 47,547,920 (GRCm39) missense unknown
R8519:Mapk1ip1l UTSW 14 47,547,920 (GRCm39) unclassified probably benign
R9696:Mapk1ip1l UTSW 14 47,548,340 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16